[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"lama2-md-merosin-deficient-congenital-muscular-dystrophy-mdc1a\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:lama2-md-merosin-deficient-congenital-muscular-dystrophy-mdc1a":55},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,44,71],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":17,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":25,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":32,"lastUpdatePostDateStruct":33,"startDateStruct":36,"completionDateStruct":38,"leadSponsor":40,"locationsCount":43},"100554767","observation-study-in-patients-age-0-5-years-with-lama2-related-congenital-muscular-dystrophy-100554767",false,"NCT06503367","Observation Study in Patients Age 0-5 Years With LAMA2-related Congenital Muscular Dystrophy","Establishing Clinical Trial Readiness for Children 0-5 Years With Congenital Muscular Dystrophy Secondary to LAMA2 Mutations (READY CMD LAMA2)","Inclusion Criteria:\n\n* Signed informed consent by the subject, parent(s) or legally authorized representative (LAR) and\u002For assent by the subject (when applicable).\n* Subject must be aged birth to less than 5.0 years of age at time of consent.\n* A confirmed diagnosis of LAMA2-RD confirmed via:\n\n  a: Two pathogenic variants in the LAMA2 gene (via a CLIA-approved laboratory) or: b. muscle biopsy with absence of merosin (laminin-211) and at least one pathogenic variant in the LAMA2 gene\n* Absence of another confirmed genetic disease.\n* Willingness to maintain current exercise and\u002For physical therapy regimen for the duration of the clinical study.\n* Willingness to comply with the study protocol, including but not limited to, all study procedures and visits.\n\nExclusion Criteria:\n\n* Acute medical illness or hospitalization within 30 days prior to informed consent.\n* Participation in a previous trial of any investigational agent for LAMA2-RD within 1 month prior to informed consent, or use of any other investigational therapy (including off-label use of Losartan) within 30 days prior to informed consent, or participation in other clinical studies, within 30 days (or 3 half-lives, whichever is longer) prior to informed consent, which in the opinion of the PI, may potentially confound results from this study.\n* Other significant medical condition, which in the opinion of the site Principal Investigator may confound interpretation of the clinical course of LAMA2- RD.","ALL","5 Years",{"count":19,"type":20},44,"ESTIMATED","OBSERVATIONAL","The goal of this observational study is to understand how young children with LAMA2-related dystrophy move and change over time. We will also learn about how this condition impacts other body systems.\n\nParticipants will undergo:\n\n* Neuromuscular assessments\n* Blood collections\n* Swallowing and breathing assessments\n* Questionnaires",[24],"LAMA2-MD \\(Merosin Deficient Congenital Muscular Dystrophy, MDC1A\\)",[26,27,28,29,30],"Early Phase 1","Observational","Natural History","Neuromuscular","Functional Assessments","RECRUITING","2026-04-06",{"date":34,"type":35},"2026-04-08","ACTUAL",{"date":37,"type":35},"2025-05-12",{"date":39,"type":20},"2028-09",{"name":41,"class":42},"Nationwide Children's Hospital","OTHER",14,{"id":45,"slug":46,"hasResults":11,"nctId":47,"briefTitle":48,"officialTitle":49,"acronym":4,"eligibilityCriteria":50,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":51,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":53,"conditions":54,"keywords":58,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":61,"lastUpdatePostDateStruct":62,"startDateStruct":64,"completionDateStruct":66,"leadSponsor":68,"locationsCount":70},"100602555","characterization-of-the-natural-history-of-lama2-rd-and-identification-of-novel-disease-biomarkers-100602555","NCT07125040","Characterization of the Natural History of LAMA2-RD and Identification of Novel Disease Biomarkers","Characterization of the Natural History of Laminin-Alpha-2-Related Dystrophy (LAMA2-RD) Patients and Identification of Novel Disease Biomarkers","INCLUSION\n\nDiagnosis of LAMA2-related dystrophy confirmed via:\n\n1. Two causative mutations in the LAMA2 gene or Muscle biopsy with absence of\n2. merosin (laminin-211) and at least one causative mutation in the LAMA2 gene or\n\n   * Consistent phenotype and affected siblings with criteria a) or b) and\n   * Ability to participate in study visits at least every 12 months during a 24 months period.\n   * Ability to sign informed consent for adults or parents\u002F legal tutors for children\n\nEXCLUSION\n\n* Lack of a confirmed diagnosis of LAMA2-relate dystrophy\n* Inability to participate in study visits at least every 12 months\n* Medical fragility which precludes the ability to safely travel to the study site and\u002For participate in the study assessments",{"count":52,"type":20},45,"The goal of this observational study is to learn about the natural history and multi-organ involvement of Laminin-Alpha-2-Related Dystrophy (LAMA2-RD) in pediatric and adult patients. The main questions it aims to answer are:\n\n* What is the prevalence and nature of cardiac involvement, and how do this relate to age and muscular phenotype?\n* What is the prevalence of peripheral neuropathy, and how do this relate to age and muscular phenotype?\n* What is the extent of respiratory, nutritional, skeletal, and cognitive\u002Fbrain involvement, particularly in adults with more severe vs less severe phenotypes?\n* How does quality of life and transition to adulthood occur in individuals with LAMA2-RD?\n* Which nomenclature best reflects differences in disease severity and may support future clinical trial design?\n\nStudy participants will:\n\n* Undergo retrospective and prospective clinical assessments every 12 months for 2 years across multiple centers.\n* A subset of adult participants (n=20) will receive cardiac MRI with contrast enhancement.\n* Provide biological samples during routine blood testing for future research.",[55,24,56,57],"LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)","Merosin Deficient CMD (Full or Partial)","Merosin Deficient Congenital Muscular Dystrophy",[59,60],"LAMA2-RD","Natural history","2025-08-07",{"date":63,"type":35},"2025-08-15",{"date":65,"type":35},"2025-07-31",{"date":67,"type":20},"2028-05",{"name":69,"class":42},"Università Vita-Salute San Raffaele",1,{"id":72,"slug":73,"hasResults":11,"nctId":74,"briefTitle":75,"officialTitle":75,"acronym":4,"eligibilityCriteria":76,"healthyVolunteers":11,"sex":16,"minAge":77,"maxAge":78,"enrollmentInfo":79,"targetDuration":17,"studyType":21,"phases":4,"briefSummary":81,"conditions":82,"keywords":85,"overallStatus":31,"whyStopped":4,"lastUpdateSubmitDate":91,"lastUpdatePostDateStruct":92,"startDateStruct":94,"completionDateStruct":96,"leadSponsor":98,"locationsCount":70},"100587110","spanish-natural-history-study-for-lama2-muscular-dystrophy-100587110","NCT06924125","Spanish Natural History Study for LAMA2 Muscular Dystrophy","Inclusion Criteria:\n\n* All patients with compatible clinical presentation and identification of 2 pathogenic variants in LAMA2, or muscle biopsy with decreased laminin alpha2 protein and at least one pathogenic variant\n* Signed informed consent by the Legal Authority Responsible and\u002For assent by the subject (starting from 6 years old)","0 Minutes","100 Years",{"count":80,"type":20},100,"The objective of this natural history study is to comprehensively characterize the disease progression and clinical features of LAMA2-related dystrophies (LAMA2-RD) in the pediatric population. The study aims to establish a well-defined cohort of patients in Spain, enabling long-term follow-up and facilitating recruitment for future clinical trials.",[55,56,57,83,84],"Muscular Dystrophies","Cohort Studies",[86,87,88,89,90],"Merosin","LAMA2","Laminin","Dystrophy","natural history","2025-04-05",{"date":93,"type":35},"2025-04-11",{"date":95,"type":35},"2021-07-27",{"date":97,"type":20},"2030-07-01",{"name":99,"class":42},"Hospital Universitari Vall d'Hebron Research Institute"]